Find hidden DNA changes in some boys with unclear DSD
Part of Genetic & congenital, Hormones & metabolism, Kidney & urinary, Women’s health & pregnancy clinical trials.
This trial looks for “structural variants,” meaning larger DNA rearrangements that standard gene tests may miss, in boys with certain differences in sex development (DSD) when results are unclear. It may help provide a clearer diagnosis that can guide care for your family.
Summary written for real people, not researchers, by Clin2.
Who can take part
- You are an XY male based on a chromosome test (karyotype).
- You are at least 6 months old.
- Your DSD is moderate to severe (Prader stage 1–5).
- A prior gene panel test did not find a clear cause of the DSD.
- Your chromosome results are not XX, mosaic XX/XY, or missing an X chromosome (monosomy X).
- Your chromosome test does not show extra or missing chromosome copies (no aneuploidy).
Quick eligibility check
Answer a few plain-language questions, based on this study's own requirements, to get a preliminary sense of fit.
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